Researchers discover genetic traits of rare liver disease

Bertus Eksteen, a member of the University of Calgary’s Snyder Institute for Chronic Diseases, was the Canadian lead on the study.The University of Calgary played a large role in a new collaborative study, published in NatureGenetics this week, to identify the genetic characteristics of a rare liver disease and improve the quality of life for patients affected by it.

Researchers identified twelve different genes believed to be the key players in the development of an autoimmune liver disease known as primary sclerosing cholangitis (PSC). PSC affects approximately 10 per cent of those with inflammatory bowel disease (IBD), and there is currently no cure. The study’s discovery could lead to a stronger understanding of the disease as well as more effective personalized treatment options.

“PSC primarily affects young adults at the peak of their lives,” says Dr. Bertus Eksteen, a member of the University of Calgary’s Snyder Institute for Chronic Diseases and the Canadian lead on the study.

“It will eventually lead to liver failure requiring a transplant, so it’s a very bad disease to get,” Eksteen adds. “We have approximately 240 patients in Calgary and surrounding areas so it’s a big achievement to have been able to contribute to this research to help these patients.”

The study, which had sites across North America and Europe and is one of the largest studies ever done on PSC, looked at the genetic data of approximately 4,000 PSC patients around the world. Twelve genes were discovered to be correlated with the illness, a discovery that Eksteen says is the first piece of the puzzle. The next step is to determine if the genes act alone to give a patient PSC, or if there is an environmental factor that triggers those who are genetically susceptible to it.

Additionally, Eksteen says that they’ve already been able to take this data and translate it to a more personalized medical approach for patients.

“We’ve been able to look at the different genes and if they’re predetermining a patient’s outcome and we’ve designed patient care around that,” he says. “For example, if a patient has genes that will make them more prone to infection, we’ll treat them with long-term antibiotics.”

Eksteen says Calgary’s contribution to this research wouldn’t have been possible without the Calgary PSC clinic — an initiative he started two years ago thanks to a University of Calgary Department of Medicine Emerging Team Grant.

“We’re offering a clinical service to PSC patients to make their lives better, and many patients are interested in helping us with our research,” he says.